Harpenden charity funding research into defective gene

PUBLISHED: 06:01 19 June 2013

The Ataxia-Telangiectasia (A-T) Society in Harpenden has launched a medical research project. Pictured are Sinead Ward and Orla.

The Ataxia-Telangiectasia (A-T) Society in Harpenden has launched a medical research project. Pictured are Sinead Ward and Orla.

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A NEW medical research project which has positive implications for people carrying a breast cancer gene – recently highlighted by actress Angelina Jolie – is being funded by a small national charity based in Harpenden.

The Ataxia-Telangiectasia (A-T) Society has launched the project as there are currently no treatments for A-T and because the condition is so rare, drug companies do not usually invest in research.

A-T is a devastating disease of children and young adults which progressively affects their co-ordination and ability to carry out everyday activities. It also brings a very high risk of developing life-threatening illnesses including cancers, especially leukaemia, lymphoma and lung disease.

About one in every 200 people carries the defective A-T gene and is at risk of having a child with the disease. And women who carry the gene are up to eight times more likely to develop breast cancer than other women.

The society, based at Rothamsted Research Centre, is, with charity the Thomas Appeal, jointly funding the project which began on June 1 at the Steve Jackson Laboratory in Cambridge.

The research uses cutting-edge cell biology and DNA sequencing technology to identify new approaches for treating Ataxia-Telangiectasia and slowing its progression.

A spokeswoman for the society said: “The fact that this project potentially offers hope for women with hereditary risk of breast cancer as well as people with A-T makes it extremely significant.”

A-T occurs when a child inherits a defective version of the ataxia telangiectastia mutated (ATM) gene from both parents.

This gene gives instructions for making a protein located primarily in the nucleus of cells where it helps control the rate at which cells grow and divide.

This protein has a number of roles including repairing damaged DNA.

The ATM gene is related to the BRCA1 gene, which when defective also increases the risk of breast cancer in women.

The spokeswoman explained: “The BRCA1 gene has been in the news recently following Angelina Jolie’s decision to have a double mastectomy to reduce the risk of cancer caused by her carrying a defective version of the gene.

“The fact that any woman, and especially an actress of the stature of Angelina Jolie, needs to have such radical surgery shows the absolute urgency of research like this.”


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